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NM_000071.3(CBS):c.572C>T (p.Thr191Met) AND CBS-related disorder

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 13, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003914787.3

Allele description [Variation Report for NM_000071.3(CBS):c.572C>T (p.Thr191Met)]

NM_000071.3(CBS):c.572C>T (p.Thr191Met)

Gene:
CBS:cystathionine beta-synthase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
21q22.3
Genomic location:
Preferred name:
NM_000071.3(CBS):c.572C>T (p.Thr191Met)
Other names:
p.T191M:ACG>ATG
HGVS:
  • NC_000021.9:g.43065481G>A
  • NG_008938.1:g.15450C>T
  • NM_000071.3:c.572C>TMANE SELECT
  • NM_001178008.3:c.572C>T
  • NM_001178009.3:c.572C>T
  • NM_001320298.2:c.572C>T
  • NM_001321072.1:c.257C>T
  • NP_000062.1:p.Thr191Met
  • NP_000062.1:p.Thr191Met
  • NP_001171479.1:p.Thr191Met
  • NP_001171480.1:p.Thr191Met
  • NP_001307227.1:p.Thr191Met
  • NP_001308001.1:p.Thr86Met
  • LRG_777t1:c.572C>T
  • LRG_777:g.15450C>T
  • LRG_777p1:p.Thr191Met
  • NC_000021.8:g.44485591G>A
  • NM_000071.2:c.572C>T
  • P35520:p.Thr191Met
Protein change:
T191M; THR191MET
Links:
UniProtKB: P35520#VAR_008068; OMIM: 613381.0016; dbSNP: rs121964973
NCBI 1000 Genomes Browser:
rs121964973
Molecular consequence:
  • NM_000071.3:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178008.3:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001178009.3:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320298.2:c.572C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321072.1:c.257C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CBS-related disorder
Synonyms:
CBS-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004735389PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Pathogenic
(Jan 13, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004735389.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The CBS c.572C>T variant is predicted to result in the amino acid substitution p.Thr191Met. This variant has been reported in individuals with homocystinuria (Kraus et al. 1999. PubMed ID: 10338090; Urreizti et al. 2003. PubMed ID: 12815602; Porto et al. 2005. PubMed ID: 15993874; Bermudez et al. 2006. PubMed ID: 16470595; Urreizti et al. 2006. PubMed ID: 16479318; Alcaide et al. 2014. PubMed ID: 25218699). Functional studies indicate that this amino acid change decreases the native folding of the encoded protein, substantially decreasing enzyme activity (Kozich et al. 2010. PubMed ID: 20506325; Hnízda et al. 2011. PubMed ID: 22069143; Alcaide et al. 2014. PubMed ID: 25218699). The p.Thr191Met substitution is considered a pyridoxine non-responsive mutation (Alcaide et al. 2014. PubMed ID: 25218699). This variant has been classified as pathogenic by multiple independent submitters to the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar/variation/132/). Given the evidence, we interpret CBS c.572C>T (p.Thr191Met) as pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 24, 2024